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Stephanie U. Greer

dblp:254/3377 · DBLP profile ↗
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1ranked-venue papers
1as first author
0since 2021 · last 2019
—ORCID · none

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1 · 1 first-author

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Bioinformatics and computational biology · 100%

Topics — the 1 heaviest of 1, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › genomics › structural variation
structural variant analysis
0.412019
Structural variant analysis for linked-read sequencing data with gemtools · Bioinform. 2019

Methods — techniques the papers use, named apart from their topics

phase blocks · 0.4barcode-based phasing · 0.4
YearPublicationVenuePosition
2019 Structural variant analysis for linked-read sequencing data with gemtools
abstract
SUMMARY: Linked-read sequencing generates synthetic long reads which are useful for the detection and analysis of structural variants (SVs). The software associated with 10× Genomics linked-read sequencing, Long Ranger, generates the essential output files (BAM, VCF, SV BEDPE) necessary for downstream analyses. However, to perform downstream analyses requires the user to customize their own tools to handle the unique features of linked-read sequencing data. Here, we describe gemtools, a collection of tools for the downstream and in-depth analysis of SVs from linked-read data. Gemtools uses the barcoded aligned reads and the Megabase-scale phase blocks to determine haplotypes of SV breakpoints and delineate complex breakpoint configurations at the resolution of single DNA molecules. The gemtools package is a suite of tools that provides the user with the flexibility to perform basic functions on their linked-read sequencing output in order to address even more questions. AVAILABILITY AND IMPLEMENTATION: The gemtools package is freely available for download at: https://github.com/sgreer77/gemtools. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Stephanie U. Greer, Hanlee P. Ji
Bioinform.1